thr777 Options
thr777 Options
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The result in the variant on RNA or protein function, determined by experimental evidence from submitters.
This sequence adjust affects codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is Element of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related situations.
This day signifies the final time this VCV history was up to date. The update can be resulting from an update to one of the incorporated submitted data (SCVs), or resulting from an update that ClinVar made towards the variant including including HGVS expressions or possibly a rs range.
This column involves more info supporting the classification, which include citations, the comment on classification, and in-depth evidence provided as observations with the variant through the submitter.
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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to take into consideration publishing that facts to ClinVar.
The quantity of variants in ClinVar which can be contained inside this gene, which has a backlink to check out the listing of variants.
These citations are discovered by LitVar using the rs range, so thr777 they may include things like citations for more than one variant at this area. Be sure to assessment the LitVar success very carefully for your personal variant of interest. File very last updated Could 19, 2024
Aberrant five' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
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The amount of variants in ClinVar for this gene, including more compact variants throughout the gene and larger CNVs that overlap or absolutely have the gene.
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Stars depict the critique standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI based on details within the submitter.